Canonical Allele Identifier: CA375694248
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133353810-T-C
MyVariant Identifiers: chr9:g.133353810T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353810T>C , CM000671.2:g.133353810T>C GRCh38
NC_000009.10:g.135210486T>C NCBI36
NG_008477.1:g.7697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.454A>G MANE Select ENSP00000361042.3:p.Ile152Val
ENST00000371974.7:c.454A>G ENSP00000361042.3:p.Ile152Val
ENST00000437995.1:n.400A>G
ENST00000495952.5:n.444A>G
ENST00000615505.4:c.127A>G ENSP00000482067.1:p.Ile43Val
NM_001280787.1:c.127A>G NP_001267716.1:p.Ile43Val
NM_003172.3:c.454A>G NP_003163.1:p.Ile152Val
XM_011518942.1:c.127A>G XP_011517244.1:p.Ile43Val
NM_003172.4:c.454A>G MANE Select NP_003163.1:p.Ile152Val
Search 100 bp 5'
Search 100 bp 3'